Age-Related Effects on Facial Emotion Recognition in Schoolchildren: An ERP Study.

The ability to recognize emotions in others is crucial for social interaction and develops during childhood. We studied the effects of age on emotional facial recognition in schoolchildren using ERP components. Children aged 6, 8, and 10 completed identity, sex, and emotion recognition (happiness, anger, sadness) tasks. The oldest group had the highest accuracy and fastest reaction times. Only the LPP component showed age-related differences, with lower amplitudes in older children. LPP showed higher amplitude during emotion recognition, which may be associated with motivational evaluation. ERP accounted for the temporal dynamics of facial processing, which involve cognitive and emotional processes.

Impact of experience on the sensitivity, acceptability, and intrusive of two subjective mental workload techniques: The NASA TLX and workload profile.

BACKGROUND: Today's work environments have high cognitive demands, and mental workload is one of the main causes of work stress, human errors, and accidents. While several mental workload studies have compared the mental workload perceived by groups of experienced participants to that perceived by novice groups, no comparisons have been made between the same individuals performing the same tasks at different times. OBJECTIVE: This work aims to compare NASA Task Load Index (NASA-TLX) to Workload Profile (WP) in terms of their sensitivity. The comparison considers the impact of experience and task differentiation in the same individual once a degree of experience has been developed in the execution of the same tasks. It also considers the acceptability and intrusivity of the techniques. METHODS: The sample consisted of 30 participants who performed four tasks in two sessions. The first session was performed when participants had no experience; the second session was performed after a time of practice. Mental workload was assessed after each session. Statistical methods were used to compare the results. RESULTS: The NASA-TLX proved to be more sensitive to experience, while the WP showed greater sensitivity to task differentiation. In addition, while both techniques featured a similar degree of intrusivity, the NASA-TLX received greater acceptability. CONCLUSION: The acceptability of WP is low due to the high complexity of its dimensions and clarifying explanations of these may be necessary to increase acceptability. Future research proposals should be expanded to consider mental workload when designing work environments in current manufacturing environments.

Corrigendum: Spirituality/Religiosity as a Therapeutic Resource in Clinical Practice: Conception of Undergraduate Medical Students of the Paulista School of Medicine (Escola Paulista de Medicina) - Federal University of São Paulo (Universidade Federal de São Paulo).

[This corrects the article DOI: 10.3389/fpsyg.2021.787340.].

Cystic fibrosis: current concepts.

Cystic fibrosis is an autosomal recessive genetic disease, mainly in Caucasian children and young adults. It is caused by pathogenic variants in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in increased viscosity and difficult mucus clearance. The main organ affected is the lung, the pancreas, sweat glands, intestine, liver, nasal mucosa, salivary glands, and reproductive tract. The clinical manifestations vary, ranging from the most frequent pulmonary symptoms of obstructive disease to gastrointestinal manifestations relatection of pathogenic variants in the CFTR gene allow the diagnosis to be integrated. Cystic fibrosis management consists of three main strategies: firstly, to keep the airway free of secretion; secondly, to keep the airway free of infection; and finally, to maintain an optimal nutritional status. Therapies that seek to correct alterations in the CFTR gene are focused on avoiding a pathogenic nonsense variant, correcting folding, increasing trafficking to the plasma membrane, or increasing the function of the CFTR channel. Other therapies still under development include gene therapy, genome editing, and antisense oligonucleotides to modify the expression of this gene.

La fibrosis quística es una enfermedad genética autosómica recesiva que se presenta principalmente en niños y adultos jóvenes caucásicos. Está causada por variantes patogénicas en el gen CFTR (regulador de la conductancia transmembrana de la fibrosis quística), lo que ocasiona un aumento de la viscosidad y un difícil aclaramiento del moco. El principal órgano afectado es el pulmón, seguido del páncreas, las glándulas sudoríparas, el intestino, el hígado, la mucosa nasal, las glándulas salivales y el aparato reproductor. Las manifestaciones clínicas son variables y van desde las más frecuentes, que son los síntomas pulmonares de enfermedad obstructiva, hasta manifestaciones gastrointestinales relacionadas con la malabsorción secundaria a la insuficiencia pancreática. Aunque existen múltiples pruebas diagnósticas para la fibrosis quística, el tamiz neonatal, el aumento en el tripsinógeno inmunorreactivo, la prueba de cloro en sudor y la detección de variantes patogénicas en el gen CFTR permiten integrar el diagnóstico. El manejo consta de tres niveles principales: el primero, mantener la vía aérea libre de secreción; el segundo, mantener la vía aérea libre de infección; y por último, mantener un estado nutricional óptimo. Las terapias que buscan corregir las alteraciones en el gen CFTR están enfocadas en evitar una variante patogénica sin sentido, corregir el plegamiento, aumentar el tráfico a la membrana plasmática o incrementar la función del canal CFTR. Otras terapias aún en desarrollo incluyen la terapia génica, la edición del genoma y los oligonucleótidos antisentido para modificar la expresión de este gen.

Aprendizaje basado en proyectos como una estrategia para la enseñanza en ciencias de la salud / Project-based learning as a teaching strategy in health sciences

Introducción: En los procesos de enseñanza-aprendizaje, los profesores deben reflexionar continuamente sobre las estrategias que se aplican directamente en el aula. Se ha estudiado el efecto de metodologías como el aprendizaje basado en problemas, el aprendizaje basado en proyectos, las simulaciones apoyadas en la tecnología, entre otras, en comparación con las metodologías tradicionales. Objetivo: Describir las fortalezas del aprendizaje basado en proyectos como estrategia educativa en el contexto de las ciencias de la salud. Desarrollo: El proceso de enseñanza-aprendizaje de las ciencias de la salud requiere de estrategias dinámicas que permitan articular los conocimientos adquiridos, con una visión práctica de las disciplinas en un contexto basado en la solución de problemas y el pensamiento crítico. Se destaca el aprendizaje basado en proyectos como una metodología que exige una participación activa, investigativa y reflexiva, para la solución de un problema; así, el conocimiento es consecuencia de la discusión, la argumentación y la toma de decisiones, que implican la construcción de dicha solución. Conclusiones: El aprendizaje basado en proyectos puede introducir mejoras y cambios con respecto a las estrategias tradicionales, al fomentar la motivación, el trabajo colaborativo, la adquisición y el afianzamiento de conocimientos en los estudiantes. Asimismo, es una metodología basada en la autoformación del estudiante que fortalece su capacidad de expresión oral y escrita, y la planificación del tiempo, por lo que se facilita la conformación y participación en equipos interdisciplinarios, competencias esenciales para el desempeño ideal de los profesionales de la salud(AU)

Introduction: In teaching-learning processes, professors must continually reflect on the strategies applied directly in the classroom. The effect of methodologies such as problem-based learning, project-based learning, technology-supported simulations, among others, has been studied in comparison with traditional methodologies. Objective: To describe the strengths of project-based learning as an educational strategy in the context of health sciences. Development: The teaching-learning process of health sciences requires dynamic strategies that allow the articulation of the acquired knowledge, with a practical vision of disciplines in a context based on problem solving and critical thinking. Project-based learning is highlighted as a methodology that requires active, investigative and reflective participation to solve a problem; thus, knowledge is the consequence of discussion, argumentation and decision-making, which imply the construction of such a solution. Conclusions: Project-based learning can introduce improvements and changes with respect to traditional strategies, by promoting motivation, collaborative work, as well as knowledge acquisition and consolidation in students. Likewise, it is a methodology based on student self-training and strengthening their capacity for oral and written expression, as well as time planning, thus facilitating the formation and participation in interdisciplinary teams, essential competences for an ideal performance of health professionals(AU)

Spirituality/Religiosity as a Therapeutic Resource in Clinical Practice: Conception of Undergraduate Medical Students of the Paulista School of Medicine (Escola Paulista de Medicina) - Federal University of São Paulo (Universidade Federal de São Paulo).

Introduction: The high degree of religious/spiritual involvement that brings meaning and purpose to a patients' life, especially when they are weakened by pain, is among the various reasons to consider the spiritual dimension in clinical practice. This involvement may influence medical decisions and, therefore, should be identified in the medical history of a patient (anamnesis). Objective: To verify the opinion of undergraduate medical students of the Paulista School of Medicine - Federal University of São Paulo regarding the use of a patient's Spirituality/Religiosity as a therapeutic resource in clinical practice. Method: Quantitative approach of the transversal analytical observational type. The sample was composed of academics' medical program, from the first to the sixth year, regularly enrolled in 2017. Data collection was performed with a standardized questionnaire divided into three sections: sociodemographic profile; Duke University Religious Index; Spirituality/Religiosity in the clinical and academic context. Results: Participated in the survey 72% of the enrolled students, of which 61.4% had religious affiliation, 26.2% declared themselves agnostic and 12.4% atheists. All of them proposed to answer questions about the insertion of Spirituality/Religiosity in the patient care process. Through the Duke Religiosity Index, we evaluated the importance of religiosity in the student's personal life and the pertinence of religiosity as a therapeutic insertion for medical treatment. Regarding the clinical and academic context, most participants considered relevant the proposition of didactic-pedagogical actions in medical education related to the spiritual dimension of the patient. Conclusion: We conclude, through our research, that the insertion of the Spirituality/Religiosity of the patient as a therapeutic resource in clinical practice is feasible for most undergraduate students in Medicine of the Escola Paulista de Medicina - Universidade Federal de São Paulo (Paulista School of Medicine - Federal University of São Paulo). The result of the research, although it shows only the opinion of medical students at a Brazilian university, indicates that Spirituality/Religiosity is already part of the contemporary medical universe.

Expression of connexin-43 in the cardiac muscle of children diagnosed with hypoplastic left heart syndrome: a Western blot and confocal laser scanning microscopy study.

Hypoplastic left heart syndrome consists of several structural abnormalities in the left side of the heart and may be associated with a hereditary genetic cause, possibly related to the connexin gene GJA1; however, only a few studies have investigated it. The present study aimed to analyse the expression of connexin-43 in the cardiac muscle of hypoplastic left heart syndrome children by Western blot method and confocal laser scanning microscopy. For that, tissue samples were taken during corrective surgery to treat heart defects. Patients of control group (8) presented any type of heart defect not related to hypoplastic left heart syndrome, connexin-43, or its gene and those of hypoplastic left heart syndrome group (9) presented this disease singly, without any other associated congenital diseases. By means of confocal laser scanning microscopy, it was noticed no connexin-43 qualitative differences in positioning and location pattern between both groups. From Western blot analysis, the connexin-43 expression did not show a statistically significant difference (p = 0.0571) as well. Within the limits of this study, it is suggested that cardiomyocytes of hypoplastic left heart syndrome children are similar in connexin-43 location, distribution, and structural and conformational patterns to those of children with heart defects not related to this protein and its genes.

Emotional faces modulate eye movement control on an antisaccade task.

The ability to modulate automatic responses, in order to favor voluntary actions is crucial for cognition and behavior, and this is particularly difficult when dealing with highly salient stimuli as emotional faces. The aim of this study was to evaluate the effects of angry faces on cortical activity during preparation of saccadic inhibition and voluntary reorientation of attention. Behavioral performance, eye movements and presaccadic event-related potentials were evaluated as 30 participants performed an antisaccadic task with neutral and angry faces presented in the peripheral visual field. Two components of the presaccadic activity were measured: positive presaccadic slope and spike potential. Results showed lower accuracy in the presence of angry faces than neutral ones. Saccade onset latency was longer for angry faces than for neutral ones on the prosaccadic trials, but the opposite result occurred on the antisaccadic trials. Finally, higher spike potential amplitudes were observed for the angry faces than the neutral ones. These results suggest that potentially threatening stimuli like angry facial expressions require greater effort to achieve inhibitory control and voluntary reorientation of attention.

Association of thoracic spine deformity and cardiovascular disease in a mouse model for Marfan syndrome.

AIMS: Cardiovascular manifestations are a major cause of mortality in Marfan syndrome (MFS). Animal models that mimic the syndrome and its clinical variability are instrumental for understanding the genesis and risk factors for cardiovascular disease in MFS. This study used morphological and ultrastructural analysis to the understanding of the development of cardiovascular phenotypes of the the mgΔloxPneo model for MFS. METHODS AND RESULTS: We studied 6-month-old female mice of the 129/Sv background, 6 wild type (WT) and 24 heterozygous animals from the mgΔloxPneo model. Descending thoracic aortic aneurysm and/or dissection (dTAAD) were identified in 75% of the MFS animals, defining two subgroups: MFS with (MFS+) and without (MFS-) dTAAD. Both subgroups showed increased fragmentation of elastic fibers, predominance of type I collagen surrounding the elastic fiber and fragmentation of interlaminar fibers when compared to WT. However, only MFS animals with spine tortuosity developed aortic aneurysm/dissection. The aorta of MFS+ animals were more tortuous compared to those of MFS- and WT mice, possibly causing perturbations of the luminal blood flow. This was evidenced by the detection of diminished aorta-blood flow in MFS+. Accordingly, only MFS+ animals presented a process of concentric cardiac hypertrophy and a significantly decreased ratio of left and right ventricle lumen area. CONCLUSIONS: We show that mgΔloxPneo model mimics the vascular disease observed in MFS patients. Furthermore, the study indicates role of thoracic spine deformity in the development of aorta diseases. We suggest that degradation of support structures of the aortic wall; deficiency in the sustenance of the thoracic vertebrae; and their compression over the adjacent aorta resulting in disturbed blood flow is a triad of factors involved in the genesis of dissection/aneurysm of thoracic aorta.

Emotional Contexts Exert a Distracting Effect on Attention and Inhibitory Control in Female and Male Adolescents.

Adolescents exhibit difficulties in behavioral regulation that become more evident when emotional contexts are involved, since these may hinder the development of socially-adaptive behaviors. The objectives of the present study were: to examine the influence of emotional contexts on adolescents' ability to inhibit a prepotent response, evaluated by ERPs, and to determine whether sex differences in response inhibition are observed in adolescents in those contexts. Participants performed a prepotent response inhibition task (Go-NoGo) under 3 background context conditions: neutral, pleasant, and unpleasant. While no differences in accuracy were observed, the presence of emotional contexts did prolong reaction times compared to the neutral context. Also, the unpleasant context caused an enhancement of N2 amplitudes compared to the neutral and pleasant contexts. Also, N2 and P3 latencies were longer in emotional contexts than in the neutral condition during both correct responses and correct inhibitions. No sex differences were found in amplitude, but females showed longer N2 and P3 latencies than males. These results confirm the idea that, in adolescents, unpleasant pictures receive preferential attention over neutral images and so generate greater difficulty in response inhibition. Finally, results demonstrate that sex differences in inhibition control in adolescence were observed only in relation to time-processing.

Fatores biopsicossociais do Eixo II dos Critérios de Diagnóstico para Pesquisa das Desordens Temporomandibulares em indivíduos com disfunção temporomandibular muscular e migrânea / Biopsychosocial factors of Axis II of the Research Diagnostic Criteria for Temporomandibular Disorders in individuals with muscular temporomandibular disorder and migraine

RESUMO JUSTIFICATIVA E OBJETIVOS: Relacionar as variáveis biopsicossociais do Research Diagnostic Criteria for Temporomandibular Disorders com os grupos de pacientes com disfunção temporomandibular, com disfunção temporomandibular e migrânea e grupo controle. MÉTODOS: Estudo do tipo observacional transversal onde foram avaliados 280 pacientes consecutivos, divididos em 3 grupos: grupo I (140 indivíduos controle); grupo II (65 indivíduos com disfunção temporomandibular muscular) e grupo III (75 indivíduos com migrânea e disfunção temporomandibular muscular). Os critérios de exclusão foram indivíduos que apresentaram histórico clínico de processos inflamatórios musculares, espasmos musculares, contraturas e injúria traumática aguda na articulação temporomandibular. RESULTADOS: Os indivíduos do grupo III apresentaram associação com depressão grave (p<0,0001), grau 4 na variável intensidade da dor (p=0,004), sintomas físicos não específicos sem dor intensa (p<0,0001) e sintomas físicos não específicos com dor intensa (p<0,0001). Houve diferença significativa entre os gêneros feminino e masculino no grupo III (Z=2,59; p=0,001), evidenciando maior tempo de dor no gênero feminino. A porcentagem de mulheres no grupo III foi significativamente maior em relação aos homens (p=0,004). CONCLUSÃO: A relação entre as variáveis e os três grupos mostrou maior número de indivíduos acometidos com maior intensidade de sintomas no grupo III. Dessa forma, entende-se que a migrânea é uma condição mórbida frequentemente associada à disfunção temporomandibular, potencializando os sintomas descritos pelos pacientes. Há necessidade de avaliações clínicas multidisciplinares nesses indivíduos para que o tratamento seja otimizado, minimizando a morbidade e diminuindo os custos e o número de consultas prestadas aos pacientes.

ABSTRACT BACKGROUND AND OBJECTIVES: To relate biopsychosocial variables of Research Diagnostic Criteria for Temporomandibular Disorders to groups of patients with temporomandibular disorders, temporomandibular disorders and migraine and a control group. METHODS: This is a cross-sectional observational study where 280 consecutive patients were evaluated and distributed in three groups: group I (140 control individuals); group II (65 individuals with muscle temporomandibular disorders) and group III (75 individuals with migraine and muscle temporomandibular disorders). Exclusion criteria were individuals with clinical history of muscle inflammatory processes, muscle spasms, contractures and acute temporomandibular joint traumatic injury. RESULTS: Group III individuals had association with severe depression (p<0.001), level 4 in pain severity (p=0.004), unspecific physical symptoms without severe pain (p<0.0001) and unspecific symptoms with severe pain (p<0.00001). There has been significant difference between females and males in group III (Z=2.59; p=0.001), with longer pain duration among females. The percentage of females in group III was significantly higher as compared to males (p=0.004). CONCLUSION: The relationship between variables and the three groups has shown a higher number of individuals with more severe symptoms in group III. So, it is understood that migraine is a morbid condition often associated to temporo mandibular disorders, worsening symptoms referred by patients. There is the need for multidisciplinary evaluation of these individuals to optimize treatment and minimize morbidity, costs and the number of medical visits.

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with Duane anomaly. It is a rare autosomal dominant disorder determined by variants in the SALL4 gene which encodes a transcription factor with eight zinc finger motifs. Here we report a novel heterozygous frameshift variant, c.410dupG, present in a Brazilian family. The five affected individuals exhibit a broad spectrum of phenotypes, ranging from the severe one presented by the index case (grossly shortened and deformed forearm, markedly hypoplastic and appendicular thumb, malformed right foot and ear malformation), to the less conspicuous condition presented by his near relatives (usually only triphalangeal or hypoplastic thumbs, sometimes associated with ulnar deviation); Duane's anomaly, however, was not observed in any of the affected family members. The c.410dupG variant is predicted to result in the translation of a truncated protein with 180 amino acid residues, lacking seven of the eight zinc finger motifs, with the same size of the predicted products of the already reported c.496dupC variant, described in two unrelated cases. However, the phenotypes observed in the three families (the one here reported and other two with c.496dupC variant) are very different. The analysis of cases so far published does not permit to establish a clear or direct genotype-phenotype correlation, but the three more severe foot malformation cases are due to variants predicted to encode truncated proteins lacking seven ZFMs. This might indicate a possible correlation between foot malformation and reduced size of the protein, suggesting that the nonsense-mediated-decay mechanism might not be so effective as to eliminate all SALL4 variants harboring premature termination codons.

Toxoplasma Gondii Infection of Chicken Embryos Causes Retinal Changes and Modulates HSP90B1 Gene Expression: A Promising Ocular Toxoplasmosis Model.

HSP90B1 is a gene that codifies heat shock protein 108 (HSP108) that belongs to a group of proteins induced under stress situation, and it has close relation with the nervous system, especially in the retina. Toxoplasma gondii causes ocular toxoplasmosis that has been associated with a late manifestation of the congenital toxoplasmosis although experimental models show that morphological alterations are already present during embryological development. Here, we used 18 eyes of Gallus domesticus embryos in 7th and 20th embryonic days to establish a model of congenital ocular toxoplasmosis, experimentally infected in its fifth day correlating with HSP90B1 gene expression. Embryos' eyes were histologically evaluated, and gene expression was performed by real-time polymerase chain reaction (PCR). Our data showed parasite present in the choroid, unusual migration of retinal pigment epithelium, and chorioretinal scars, and a tendency to a lower expression of the HSP90B1 gene upon experimental infection. This is a promising model to better understand T. gondii etiopathogeny.

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

Obesity is a highly heritable but genetically heterogeneous disorder. Various well-known microdeletion syndromes (e.g. 1p36, 2q37, 6q16, 9q34, 17p11.2) can cause this phenotype along with intellectual disability (ID) and other findings. Chromosomal microarrays have identified 'new' microdeletion/duplication syndromes often associated with obesity. We report on 2 unrelated patients with an overlapping region of deletion at 1p21.3p21.2, and a third patient with a de novo recurrent unbalanced translocation der(8)t(8;12)(p23.1;p13.31), detected by 180K array CGH in a prospective cohort of syndromic obesity patients. Deletion of 1p21.3 is a rare condition, and there have been only 11 cases of the same recurrent translocation between chromosomes 8 and 12 [t(8;12)] reported to date. The former has been associated with ID, autistic spectrum disorder (ASD) and mild dysmorphic features, and in 4 patients who were obese or had a tendency to obesity, a minimal overlapping region of 2 genes, DPYD and MIR137, was detected; t(8;12) has recently been recognized to cause a childhood obesity syndrome due to duplication of the GNB3 gene. Thus, our findings add to the existing literature on the clinical description of these new syndromes, providing additional support that these loci are associated with syndromic obesity. We suggest that heterozygous loss of MIR137 may contribute to obesity as well as ID and ASD.

Temporomandibular disorder: prevalence among hemophiliac patients / Trastorno temporomandibular: prevalencia en pacientes hemofílicos

The objective was to investigate the prevalence of temporomandibular dysfunction ­TMD - in severe and moderate hemophiliac A and B patients and healthy men as control group. Hemophilia complication is chronic arthropathy that results from repeated joint bleeding, leading to limited movement. Limitation of jaw movement is present in patients with TMD. Hemophiliac patients were recruited in the Hemophilia outpatient clinic at Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP). The control group was composed of voluntary subjects recruited among medical and dental students of UNIFESP. Both groups were screened for TMD symptoms according to the European Academy of Craniomandibular Disorders questionnaire. The Research Diagnostic Criteria further evaluated those considered positive for TMD. The results showed a similar prevalence of TMD in the hemophiliac group compared to the control group (n= 38, n= 79; p= 0.7). There were no significant differences in severity of sign and symptoms between the groups. In conclusion, patients with hemophilia do not have a higher prevalence of temporomandibular disorders, indicating absence of hemorrhage in temporomandibular joint.

El objetivo fue investigar la prevalencia de trastornos temporomandibulares (TTM) entre pacientes hemofílicos A y B severos y moderados, y hombres sanos como grupo de control. Una complicación de la Hemofilia es la artropatía crónica como resultado de una hemorragia articular a repetición, limitando el movimiento en el tiempo. La limitación del movimiento de la mandíbula está presente en pacientes con TTM. Los pacientes hemofílicos fueron reclutados en la clínica de atención ambulatoria de hemofilia en Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP). El grupo control estaba compuesto por sujetos voluntarios reclutados entre los estudiantes de Medicina y Odontología de UNIFESP. Ambos grupos fueron evaluados por síntomas de TTM según cuestionario de trastornos craneomandibulares de la Academia Europea. Los criterios de diagnósticos de investigación evaluados se consideraron positivos para TTM. Los resultados mostraron una prevalencia similar de TTM en el grupo de hemofílicos en comparación con el grupo control (n= 38, n= 79; p= 0,7). No se encontraron diferencias significativas en la gravedad de los signos y síntomas entre los grupos. En conclusión, los pacientes con hemofilia no tienen una mayor prevalencia de trastornos temporomandibulares, indicando la ausencia de hemorragia en la articulación temporomandibular.

LA FORMALIZACIÓN DEL CONSENTIMIENTO INFORMADO EN INVESTIGACIÓN Y LA PÉRDIDA SENTIMENTAL DEL PACIENTE / FORMALIZATION OF INFORMED CONSENT IN RESEARCH AND THE PATIENT'S EMOTIONAL LOSS / A FORMALIZAÇÃO DO CONSENTIMENTO INFORMADO EM PESQUISA E A PERDA SENTIMENTAL DO PACIENTE

El consentimiento informado en investigación se inscribe en la relación médico-paciente, que ha sufrido, y sigue sufriendo, importantes cambios: desde el planteamiento clásico, como relación de amistad, al planteamiento contemporáneo, como relación entre extraños (enemigos potenciales, siguiendo tesis ilustradas sobre la sociedad), que es regulada por normas éticas y legales. El principal objetivo de estas últimas es conseguir, mediante requisitos formales, que dicha relación no perjudique al paciente. Bajo esta luz, se examina y compara el consentimiento informado en las principales normativas internacionales y en la ley española. Especialmente, nos centramos en la hoja de información al paciente, la comprensión, la voluntariedad, la certificación y la comunicación de los resultados de la investigación. Se concluye con la observación de la seria limitación intrínseca de la que adolecen estas normativas, que impiden, más que favorecen, el trato adecuado al paciente.

Informed consent for research is part of the doctor-patient relationship, which has suffered and continues to suffer important changes. These range from the classic approach, such as friendship, to the contemporary approach, namely, a relationship between strangers (potential enemies, according to illustrated notions of society) regulated by ethical and legal standards. The primary objective of these standards is to ensure, through formal requirements, that the relationship does not harm the patient. With this perspective in mind, the study examines and compares informed consent in light of the most important international standards and under Spanish law. There is a particular focus on the patient information sheet, understanding, willingness, certification and communication of research results. The study concludes there are serious inherent constraints in these regulations that prevent rather than promote treating the patient properly.

O consentimento informado em pesquisa está apoiado na relação médico-paciente, que sofreu, e continua sofrendo, importantes mudanças: da proposta clássica, como relação de amizade, à proposta contemporânea, como relação entre estranhos (inimigos potenciais, seguindo teses ilustradas sobre a sociedade), que é regulada por normas éticas e legais. O principal objetivo destas últimas é conseguir, mediante requisitos formais, que essa relação não prejudique o paciente. Sob esse prisma, examina e compara-se o consentimento informado nas principais normativas internacionais e na lei espanhola. Especialmente, centra-se no prontuário do paciente, na compreensão, na voluntariedade, na certificação e na comunicação dos resultados da pesquisa. Conclui-se com a observação da séria limitação intrínseca da qual sofrem essas normativas, que impedem, mais do que favorecem, o tratamento adequado do paciente.

Shape and Symmetry of Human Condyle and Mandibular Fossa / Forma y Simetría del Cóndilo Humano y Fosa Mandibular

The aim of the study was to determine and classify the shape of the mandibular fossa and the corresponding condyle in different types, relating them to sex and symmetry, in adult human skulls, from lateral, posterior and superior views. The sample included 50 human skulls from 23 to 82 years old, 32 males and 18 females. The condyle and silicone casting molds of the fossa were photographed to assess shape in the three views. Shapes were classified, validated by intra- and inter-rater analysis and frequency, sex distribution and symmetry verified. Shapes were classified as rounded, angled, flattened and mixed types in the lateral and posterior views; and as biconvex, flat-convex, biflattened and mixed in the superior view. Rounded condyle and fossa were more frequent in the lateral (57% and 66% respectively) and posterior (53% and 83%) views. In the superior view, mixed shape presented higher frequency in condyle (59%) while in fossa the biconvex shape (46%) was most common. There was no significant difference in shape distribution by sex. The same shape (symmetry) or otherwise (non-symmetry) in right and left side condyle and fossa were separately assessed and showed various combinations.

El objetivo del estudio fue determinar y clasificar la forma de la fosa mandibular y cóndilo correspondiente en diferentes tipos, relacionándolos con el sexo y la simetría en cráneos humanos adultos en perspectivas laterales, posteriores y superiores. La muestra incluyó 50 cráneos humanos de 32 hombres y 18 mujeres entre 23 a 82 años. Fueron fotografiados el cóndilo y moldes de silicona de la fosa para evaluar la forma en los tres puntos. Se clasificaron las formas, validadas por el análisis intra e inter-evaluador, la frecuencia, distribución por sexo y simetría verificada. Las formas fueron clasificadas como redondeada, en ángulo, aplanada y mixtas en las vistas lateral y posterior; y como biconvexa, convexo-plana, y mixta en la vista superior. En las vistas laterales el cóndilo y la fosa redondeada fueron más frecuentes (57% y 66%, respectivamente), mientras que en la vista posterior (53% y 83%). En la vista superior, la forma mixta presentó mayor frecuencia en el cóndilo (59%), mientras que en la fosa la forma biconvexa (46%) fue más común. No hubo diferencia significativa en la distribución de laforma por sexo. La misma forma (simétrica o no-simétrica) en el cóndilo lateral derecho e izquierdo y la fosa fueron evaluadas por separado, y se observaron varias combinaciones.

Analysis by Light, Scanning, and Transmission Microscopy of the Intima Synovial of the Temporomandibular Joint of Human Fetuses during the Development.

Objective. To characterize morphologically and ultrastructurally using light microscopy, the scanning electron microscopy and transmission electron microscopy the intima synovial of the temporomandibular joint (TMJ) of human fetuses between the 10th and the 38th week of development. Materials and Methods. The TMJ was dissected bilaterally in 37 human fetuses belonging to the Institute of Embryology of the University Complutense of Madrid and of the Federal University of São Paulo. Results. The outcome by light microscopy showed the morphology of the TMJ and that the formation of inferior joint cavity precedes the superior joint cavity and the presence of blood vessels in the synovial. Conclusion. By scanning and transmission electron microscopy we observed the presence of two well-defined cell types in the intima layer of synovial of the TMJ of human fetuses, macrophage-like type A cell and fibroblast-like type B cell, and the presence of the a third cell type, defined by the name of intermediate lining cell in the intima layer of the synovial.

Ring chromosome 10: report on two patients and review of the literature.

Ring chromosome 10--r(10)--is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.